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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.67483228G>C
CA224160955
AIP
c.47G>C
c.70G>C (p.Glu24Gln)
n.180G>C
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
11
g.67483228G>T
CA344151
AIP
c.47G>T
c.70G>T (p.Glu24Ter)
n.180G>T
ClinVar
dbSNP
Number of alleles fetched
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